Phenotypic and genotypic characterization of families with complex intellectual disability identified pathogenic genetic variations in known and novel disease genes.
Darvish H, Azcona LJ, Tafakhori A, Mesias R, Ahmadifard A, Sanchez E, Habibi A, Alehabib E, Johari AH, Emamalizadeh B, Jamali F, Chapi M, Jamshidi J, Kajiwara Y, Paisán-Ruiz C.
Darvish H, et al.
Sci Rep. 2020 Jan 22;10(1):968. doi: 10.1038/s41598-020-57929-4.
Sci Rep. 2020.
PMID: 31969655
Free PMC article.
Different disease-associated loci and pathogenic gene mutations were identified in each family, including known (n = 4) and novel (n = 2) mutations in known genes (NAGLU, SLC5A2, POLR3B, VPS13A, SYN1, SPG11), and the identification of a novel disease gene (n …
Different disease-associated loci and pathogenic gene mutations were identified in each family, including known (n = 4) and novel ( …